Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
Abnormal lymphatic phenotype in a CRISPR mouse model of the human lymphedema-causing Connexin47 R260C point mutation.
Mustacich DJ et al.
Lymphology, 2021
Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O et al.
The Journal of Experimental Medicine, 2017
28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P et al.
Journal of Medical Genetics, 2011
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